Canonical Allele Identifier: CA390697174

Gene: VIPAS39

Linked Data

• MyVariant Identifiers: chr14:g.77901700C>G (hg19) ; chr14:g.77435357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77435357C>G , CM000676.2:g.77435357C>G	GRCh38
NC_000014.8:g.77901700C>G , CM000676.1:g.77901700C>G	GRCh37
NC_000014.7:g.76971453C>G	NCBI36
NG_023421.1:g.27284G>C
NG_023421.2:g.27284G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557658.6:c.949G>C MANE Select	ENSP00000452191.1:p.Glu317Gln
ENST00000327028.8:c.802G>C	ENSP00000313098.5:p.Glu268Gln
ENST00000343765.6:c.949G>C	ENSP00000339122.2:p.Glu317Gln
ENST00000448935.6:c.802G>C	ENSP00000404815.2:p.Glu268Gln
ENST00000553576.5:n.361G>C
ENST00000553888.5:c.949G>C	ENSP00000452181.1:p.Glu317Gln
ENST00000556412.4:c.1027G>C	ENSP00000451857.1:p.Glu343Gln
ENST00000557658.5:c.949G>C	ENSP00000452191.1:p.Glu317Gln
NM_001193314.1:c.949G>C	NP_001180243.1:p.Glu317Gln
NM_001193315.1:c.949G>C	NP_001180244.1:p.Glu317Gln
NM_001193316.1:c.802G>C	NP_001180245.1:p.Glu268Gln
NM_001193317.1:c.949G>C	NP_001180246.1:p.Glu317Gln
NM_022067.3:c.949G>C	NP_071350.2:p.Glu317Gln
XM_011537066.1:c.856G>C	XP_011535368.1:p.Glu286Gln
XM_011537066.2:c.856G>C	XP_011535368.1:p.Glu286Gln
XM_017021580.2:c.949G>C	XP_016877069.1:p.Glu317Gln
XM_017021581.2:c.949G>C	XP_016877070.1:p.Glu317Gln
XM_024449688.1:c.856G>C	XP_024305456.1:p.Glu286Gln
XR_001750501.2:n.1071G>C
NM_001193314.2:c.949G>C	NP_001180243.1:p.Glu317Gln
NM_001193316.2:c.802G>C	NP_001180245.1:p.Glu268Gln
NM_001193317.2:c.949G>C	NP_001180246.1:p.Glu317Gln
NM_022067.4:c.949G>C	NP_071350.2:p.Glu317Gln
NM_001193315.2:c.949G>C MANE Select	NP_001180244.1:p.Glu317Gln
NM_001400324.1:c.802G>C	NP_001387253.1:p.Glu268Gln
NM_001400325.1:c.802G>C	NP_001387254.1:p.Glu268Gln
NM_001400326.1:c.949G>C	NP_001387255.1:p.Glu317Gln
NM_001400327.1:c.916G>C	NP_001387256.1:p.Glu306Gln
NM_001400330.1:c.949G>C	NP_001387259.1:p.Glu317Gln
NM_001400331.1:c.949G>C	NP_001387260.1:p.Glu317Gln
NM_001400332.1:c.949G>C	NP_001387261.1:p.Glu317Gln
NM_001400333.1:c.856G>C	NP_001387262.1:p.Glu286Gln
NM_001400334.1:c.856G>C	NP_001387263.1:p.Glu286Gln
NM_001400335.1:c.949G>C	NP_001387264.1:p.Glu317Gln
NM_001400336.1:c.912+487G>C	NP_001387265.1:n.912+487G>C
NM_001400337.1:c.709G>C	NP_001387266.1:p.Glu237Gln
NM_001400338.1:c.847G>C	NP_001387267.1:p.Glu283Gln
NM_001400339.1:c.763-1054G>C	NP_001387268.1:n.763-1054G>C
NR_174476.1:n.1056G>C